Disease Clusters?
Groups of diseases that share a large number of curated genes with each other, computed via label propagation over the shared-gene similarity graph. See also Shared-Gene Disease Pairs for pairwise comparisons.
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Cluster 266
7
Diseases
15
Unique genes
0.194
Avg. similarity score
Von willebrand disorder
Most-connected disease (5 links)
Disease
Searched: hereditary von Willebrand disease
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hereditary von Willebrand disease
Von willebrand disorder
Bernard-soulier syndrome
Cerebral thrombosis
Intracranial thrombosis
platelet-type von Willebrand disease
platelet-type bleeding disorder 8
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Von willebrand disorder | 5 | 5 | 9 |
| Bernard-soulier syndrome | 3 | 3 | 5 |
| Cerebral thrombosis | 3 | 3 | 3 |
| Intracranial thrombosis | 3 | 3 | 5 |
| hereditary von Willebrand disease | 3 | 3 | 1 |
| platelet-type von Willebrand disease | 2 | 2 | 1 |
| platelet-type bleeding disorder 8 | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| VWF | 5 / 7 | Bernard-soulier syndrome, Cerebral thrombosis, hereditary von Willebrand disease, Intracranial thrombosis and 1 more |
| GP1BA | 3 / 7 | Bernard-soulier syndrome, platelet-type von Willebrand disease, Von willebrand disorder |
| PLAT | 3 / 7 | Cerebral thrombosis, Intracranial thrombosis, Von willebrand disorder |
| P2RY12 | 2 / 7 | platelet-type bleeding disorder 8, Von willebrand disorder |
| SERPINC1 | 2 / 7 | Cerebral thrombosis, Intracranial thrombosis |
What do these columns mean?
- Connections in cluster
- How many other members this disease has a shared-gene link to (the node size in the network above). The most-connected diseases are the cluster's core.
- Significant partners
- How many of those links are statistically significant (FDR q < 0.05).
- Curated genes
- Distinct curated genes linked to that disease in GeDiPNet.
- Member diseases (Top shared genes)
- How many of this cluster's diseases are linked to the gene, out of the cluster's total. Genes shared by many members are the most direct explanation of why they group together.
- Overlap genes (x / y)
- x = genes shared between this cluster and the pathway/GO term; y = that pathway/GO term's total gene count. A higher x relative to y (and to the cluster's own size) means a tighter biological match.
- Cluster gene count
- Total distinct genes across every disease in this cluster -- the "n" used in the significance test below.
- Fold enrichment
- Observed overlap divided by the overlap expected by chance, given the cluster's gene count, the pathway/term's size and the gene universe tested. 5× means five times more shared genes than random. Tells strong hits apart when q-values are all vanishingly small.
- P-value / FDR q-value
- Is this pathway/GO term's overlap with the cluster more than chance? Upper-tail hypergeometric test, Benjamini-Hochberg corrected across every tested pathway/term (prefer the q-value -- it accounts for testing many at once).
- Shared genes (Pairs within this cluster)
- Number of curated genes the two diseases in that row have in common.
- Similarity score (Pairs within this cluster)
- Jaccard-based gene overlap between the two specific diseases in that row -- same metric as the main Shared-Gene Disease Pairs page.
Enriched Pathways (why this cluster is grouped, biologically)
| Pathway ⇵ | Source ⇵ | Overlap genes ⇵ | Fold enrichment ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Platelet activation | KEGG | 9 / 126 | 57.2× | 5.47e-15 | 1.77e-12 ✓ sig. |
| Intrinsic Pathway of Fibrin Clot Formation | Reactome | 6 / 23 | 209× | 1.20e-13 | 3.00e-11 ✓ sig. |
| Platelet Adhesion to exposed collagen | Reactome | 5 / 11 | 364× | 6.64e-13 | 1.48e-10 ✓ sig. |
| ECM-receptor interaction | KEGG | 7 / 89 | 63.0× | 5.92e-12 | 1.12e-9 ✓ sig. |
| Platelet Aggregation (Plug Formation) | Reactome | 4 / 8 | 400× | 1.10e-10 | 1.61e-8 ✓ sig. |
| GP1b-IX-V activation signalling | Reactome | 4 / 12 | 267× | 7.75e-10 | 9.24e-8 ✓ sig. |
| Complement and coagulation cascades | KEGG | 5 / 88 | 45.5× | 5.34e-8 | 3.99e-6 ✓ sig. |
| Hematopoietic cell lineage | KEGG | 5 / 100 | 40.0× | 1.02e-7 | 7.10e-6 ✓ sig. |
| Integrin signaling | Reactome | 3 / 23 | 104× | 2.75e-6 | 1.25e-4 ✓ sig. |
| Integrin cell surface interactions | Reactome | 3 / 81 | 29.7× | 1.27e-4 | 2.80e-3 ✓ sig. |
| p130Cas linkage to MAPK signaling for integrins | Reactome | 2 / 15 | 107× | 1.51e-4 | 3.22e-3 ✓ sig. |
| GRB2:SOS provides linkage to MAPK signaling for Integrins | Reactome | 2 / 15 | 107× | 1.51e-4 | 3.22e-3 ✓ sig. |
| Signaling by high-kinase activity BRAF mutants | Reactome | 2 / 36 | 44.5× | 8.95e-4 | 1.29e-2 ✓ sig. |
| MAP2K and MAPK activation | Reactome | 2 / 40 | 40.0× | 1.10e-3 | 1.52e-2 ✓ sig. |
| Signaling by moderate kinase activity BRAF mutants | Reactome | 2 / 47 | 34.1× | 1.52e-3 | 1.94e-2 ✓ sig. |
Enriched GO Terms (Biological Process, a second line of biological evidence)
| GO term ⇵ | GO ID ⇵ | Overlap genes ⇵ | Fold enrichment ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| blood coagulation | GO:0007596 | 11 / 106 | 129× | 1.54e-22 | 3.55e-19 ✓ sig. |
| hemostasis | GO:0007599 | 9 / 55 | 204× | 4.11e-20 | 6.54e-17 ✓ sig. |
| platelet activation | GO:0030168 | 5 / 69 | 90.3× | 1.73e-9 | 3.66e-7 ✓ sig. |
| blood coagulation, intrinsic pathway | GO:0007597 | 3 / 8 | 467× | 2.34e-8 | 3.58e-6 ✓ sig. |
| regulation of blood coagulation | GO:0030193 | 3 / 11 | 340× | 6.88e-8 | 8.92e-6 ✓ sig. |
| positive regulation of platelet activation | GO:0010572 | 3 / 13 | 287× | 1.19e-7 | 1.43e-5 ✓ sig. |
| cell adhesion | GO:0007155 | 7 / 665 | 13.1× | 3.51e-7 | 3.57e-5 ✓ sig. |
| megakaryocyte development | GO:0035855 | 3 / 23 | 162× | 7.34e-7 | 6.59e-5 ✓ sig. |
| release of sequestered calcium ion into cytosol | GO:0051209 | 3 / 48 | 77.9× | 7.08e-6 | 4.10e-4 ✓ sig. |
| collagen-activated signaling pathway | GO:0038065 | 2 / 6 | 415× | 9.00e-6 | 4.99e-4 ✓ sig. |
| positive regulation of positive chemotaxis | GO:0050927 | 2 / 11 | 227× | 3.29e-5 | 1.36e-3 ✓ sig. |
| plasminogen activation | GO:0031639 | 2 / 12 | 208× | 3.95e-5 | 1.56e-3 ✓ sig. |
| fibrinolysis | GO:0042730 | 2 / 19 | 131× | 1.02e-4 | 3.18e-3 ✓ sig. |
| positive regulation of leukocyte migration | GO:0002687 | 2 / 19 | 131× | 1.02e-4 | 3.18e-3 ✓ sig. |
| cell-substrate adhesion | GO:0031589 | 2 / 25 | 99.7× | 1.79e-4 | 4.81e-3 ✓ sig. |
Pairs within this cluster, by significance
| Disease A ⇵ | Disease B ⇵ | Similarity score ⇵ | Shared genes ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Cerebral thrombosis | Intracranial thrombosis | 0.500 | 3 | 1.64e-11 | 1.77e-10 ✓ sig. |
| Cerebral thrombosis | Von willebrand disorder | 0.182 | 2 | 9.11e-7 | 5.37e-6 ✓ sig. |
| Bernard-soulier syndrome | Von willebrand disorder | 0.154 | 2 | 3.03e-6 | 1.63e-5 ✓ sig. |
| Intracranial thrombosis | Von willebrand disorder | 0.154 | 2 | 3.03e-6 | 1.63e-5 ✓ sig. |
| Cerebral thrombosis | hereditary von Willebrand disease | 0.250 | 1 | 1.95e-4 | 5.35e-4 ✓ sig. |
| Bernard-soulier syndrome | hereditary von Willebrand disease | 0.167 | 1 | 3.25e-4 | 7.71e-4 ✓ sig. |
| Bernard-soulier syndrome | platelet-type von Willebrand disease | 0.167 | 1 | 3.25e-4 | 7.71e-4 ✓ sig. |
| hereditary von Willebrand disease | Intracranial thrombosis | 0.167 | 1 | 3.25e-4 | 7.71e-4 ✓ sig. |
| platelet-type bleeding disorder 8 | Von willebrand disorder | 0.100 | 1 | 5.84e-4 | 1.16e-3 ✓ sig. |
| platelet-type von Willebrand disease | Von willebrand disorder | 0.100 | 1 | 5.84e-4 | 1.16e-3 ✓ sig. |